Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated : 06/20/2022

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.

Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

The bacterial toxin ExoU requires a host trafficking chaperone for transportation and to induce necrosis.

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Generation of cryopreserved macrophages from normal and genetically engineered human pluripotent stem cells for disease modelling.

Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.

Showing 1-12 of 15

Last Updated : 06/20/2022